Table 1. Plasma biochemical parameters of patients with HHcy.
Genetic HHcy | Acquired HHcy | ||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Pathology | Classical homocystinuria | Cblc def. | MTHFR def. | B12 def. | N2O ttt | Folate def. | Methotrexate ttt | ||||||||||
Patient N° | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 |
Age at sampling | 17 Y | 26 Y | 31 Y | 14 D | 24 D | 3 M | 18 Y | 1 D | 4 M | 6 M | 15 Y | 11 M | 11Y | 12 Y | 4 Y | 14 Y | 4 Y |
tHcy (μM) | 262* | 631* | 322* | 127* | 211* | 154* | 89* | 155* | 124* | 90* | 122* | 125* | 111* | 155* | 59* | 40* | 31* |
Met (μM) | 626* | 322* | 593* | 2† | 5† | 7† | 32 | 3† | 7† | 5† | 20 | 9† | 19† | 11† | 16† | 11† | 26 |
Betaine (μM) | 11† | 19† | 12† | 10† | 10† | 6† | 14† | 4† | 8† | 12† | 7† | 10† | 13† | 11† | 14† | 12† | 15† |
DMG (μM) | 4.0 | 2.4 | 3.9 | 4.0 | 11.8 | 3.0 | 7.0 | 1.0† | 8.0 | 9.0 | 22.2* | 6.0 | 1.6 | 1.3 | 3.6 | 4.1 | 1.9 |
*Concentration above the laboratory reference values according to age.
Concentration below the laboratory reference values according to age.
D, days, def., deficiency; M, months; Met, methionine; N2O, nitrous oxide; tHcy, total homocysteine; ttt, treatment; Y, years.